Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Emc1'

207411

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1843 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

139079898-139106041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139102823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 994 (R994Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000147999] [ENSMUST00000155700] [ENSMUST00000179784]

AlphaFold

Q8C7X2

Predicted Effect

probably benign
Transcript: ENSMUST00000042096
AA Change: R991Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: R991Q

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	5.3e-9	PFAM
Pfam:DUF1620	787	993	1.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082262
AA Change: R994Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: R994Q

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	4.7e-10	PFAM
Pfam:DUF1620	791	996	1.1e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147999

SMART Domains

Protein: ENSMUSP00000117419
Gene: ENSMUSG00000066036

Domain	Start	End	E-Value	Type
low complexity region	170	226	N/A	INTRINSIC
low complexity region	617	629	N/A	INTRINSIC
Pfam:E3_UbLigase_R4	1205	1301	4.5e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155700

Predicted Effect

probably benign
Transcript: ENSMUST00000179784
AA Change: R994Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: R994Q

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	5.3e-9	PFAM
Pfam:DUF1620	790	996	1.1e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181556

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 106,435,606 (GRCm39)	T88M	probably damaging	Het
9430038I01Rik	A	G	7: 136,978,795 (GRCm39)		probably benign	Het
Adgra3	A	C	5: 50,118,834 (GRCm39)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,692,652 (GRCm39)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,176 (GRCm39)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,321,623 (GRCm39)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,348,751 (GRCm39)		probably null	Het
Apob	T	C	12: 8,057,602 (GRCm39)	F2028S	possibly damaging	Het
Arap3	G	A	18: 38,108,636 (GRCm39)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,651,121 (GRCm39)	Y135H	probably damaging	Het
Armh3	A	C	19: 45,963,691 (GRCm39)	S42R	probably benign	Het
Atp1a1	T	C	3: 101,489,333 (GRCm39)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,289,255 (GRCm39)	M497L	probably benign	Het
Ces5a	C	T	8: 94,240,859 (GRCm39)	V413M	probably damaging	Het
Chd5	A	T	4: 152,470,263 (GRCm39)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,737,422 (GRCm39)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,957,248 (GRCm39)	D303E	probably benign	Het
Chrnb4	A	T	9: 54,942,102 (GRCm39)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,840,802 (GRCm39)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,865,972 (GRCm39)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,240,940 (GRCm39)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,586,398 (GRCm39)	Q649R	probably benign	Het
Defb12	T	A	8: 19,162,754 (GRCm39)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,429,185 (GRCm39)	I85N	probably damaging	Het
Duox2	C	T	2: 122,122,739 (GRCm39)		probably null	Het
Ebi3	T	A	17: 56,263,679 (GRCm39)	Y197N	probably damaging	Het
Ercc6	G	T	14: 32,268,777 (GRCm39)	M530I	probably damaging	Het
Evl	T	A	12: 108,619,255 (GRCm39)	D70E	probably damaging	Het
Fbln2	A	G	6: 91,242,757 (GRCm39)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,176,363 (GRCm39)	I170V	probably benign	Het
Gfm1	T	C	3: 67,342,943 (GRCm39)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,728,177 (GRCm39)	T18A	unknown	Het
Gm12887	A	T	4: 121,479,227 (GRCm39)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,435,243 (GRCm39)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,675,791 (GRCm39)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,272,878 (GRCm39)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,923,157 (GRCm39)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm39)	I889N	probably damaging	Het
Kcnq1	A	T	7: 142,736,857 (GRCm39)	M209L	probably benign	Het
Klra7	A	G	6: 130,206,957 (GRCm39)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,640,127 (GRCm39)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,063,034 (GRCm39)		probably null	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,602,247 (GRCm39)	D174G	probably damaging	Het
Megf9	G	T	4: 70,453,022 (GRCm39)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,760,412 (GRCm39)	T1155S	probably benign	Het
Nherf2	C	T	17: 24,860,693 (GRCm39)	S150N	possibly damaging	Het
Nlrp6	T	A	7: 140,503,006 (GRCm39)	C371S	probably damaging	Het
Nosip	T	A	7: 44,726,733 (GRCm39)		probably null	Het
Nox3	G	T	17: 3,720,153 (GRCm39)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,079,393 (GRCm39)	V959A	probably damaging	Het
Or10d1	A	G	9: 39,484,031 (GRCm39)	Y175H	possibly damaging	Het
Or2b2b	C	A	13: 21,858,842 (GRCm39)	V91L	probably benign	Het
Or2k2	T	C	4: 58,785,384 (GRCm39)	I113V	probably benign	Het
Or5b119	A	G	19: 13,457,295 (GRCm39)	I89T	probably benign	Het
Or5k8	T	A	16: 58,644,440 (GRCm39)	I211F	probably damaging	Het
Osbpl3	A	C	6: 50,347,123 (GRCm39)	S25A	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,511,802 (GRCm39)	R260C	probably damaging	Het
Pbrm1	A	T	14: 30,760,914 (GRCm39)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,325,278 (GRCm39)		probably null	Het
Pcnx1	T	C	12: 82,027,709 (GRCm39)	L1585P	probably damaging	Het
Pde4c	C	T	8: 71,200,599 (GRCm39)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pgm1	A	T	4: 99,818,675 (GRCm39)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,271,235 (GRCm39)	H814R	probably benign	Het
Pknox2	A	T	9: 36,866,127 (GRCm39)	M5K	possibly damaging	Het
Pole	G	A	5: 110,478,701 (GRCm39)		probably null	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prelp	T	C	1: 133,842,495 (GRCm39)	K217E	probably damaging	Het
Prkce	C	T	17: 86,782,974 (GRCm39)	Q202*	probably null	Het
Psmd2	T	G	16: 20,475,332 (GRCm39)	M370R	probably benign	Het
Rimklb	A	T	6: 122,440,968 (GRCm39)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,630,420 (GRCm39)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,426,321 (GRCm39)	M1L	probably benign	Het
Scrn1	A	G	6: 54,499,826 (GRCm39)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,778,244 (GRCm39)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,861,282 (GRCm39)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,855,364 (GRCm39)	P346L	probably benign	Het
Shld2	A	G	14: 33,989,760 (GRCm39)	I382T	probably benign	Het
Spg21	G	T	9: 65,372,618 (GRCm39)	V17F	probably damaging	Het
Spink5	A	T	18: 44,132,958 (GRCm39)	M525L	probably benign	Het
Sun2	T	C	15: 79,621,764 (GRCm39)	T155A	probably benign	Het
Tchh	T	A	3: 93,354,087 (GRCm39)	F1176I	unknown	Het
Tex15	T	A	8: 34,066,682 (GRCm39)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,199,857 (GRCm39)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,097,143 (GRCm39)	N139S	probably benign	Het
Tns2	C	T	15: 102,021,568 (GRCm39)		probably null	Het
Trim66	T	C	7: 109,075,046 (GRCm39)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,187,415 (GRCm39)	F456I	probably benign	Het
Tspo2	T	C	17: 48,755,818 (GRCm39)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,032,850 (GRCm39)	C304*	probably null	Het
Vgll4	A	T	6: 114,839,756 (GRCm39)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,464,732 (GRCm39)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,818,183 (GRCm39)	S587A	probably benign	Het
Vps4b	C	A	1: 106,706,712 (GRCm39)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,048,314 (GRCm39)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm39)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp764l1	A	C	7: 126,990,660 (GRCm39)	D442E	probably benign	Het
Zswim5	G	T	4: 116,734,896 (GRCm39)	E80D	unknown	Het

Other mutations in Emc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Emc1	APN	4	139,082,393 (GRCm39)	splice site	probably benign
IGL00898:Emc1	APN	4	139,098,941 (GRCm39)	missense	probably damaging	1.00
IGL01481:Emc1	APN	4	139,089,410 (GRCm39)	missense	probably benign	0.00
IGL02174:Emc1	APN	4	139,098,979 (GRCm39)	missense	possibly damaging	0.95
IGL02264:Emc1	APN	4	139,102,775 (GRCm39)	missense	probably damaging	1.00
IGL02501:Emc1	APN	4	139,098,295 (GRCm39)	missense	probably benign	0.00
IGL02697:Emc1	APN	4	139,079,955 (GRCm39)	missense	probably benign
IGL03355:Emc1	APN	4	139,098,904 (GRCm39)	splice site	probably benign
IGL03386:Emc1	APN	4	139,091,092 (GRCm39)	critical splice donor site	probably null
PIT4480001:Emc1	UTSW	4	139,086,588 (GRCm39)	missense	possibly damaging	0.69
R0023:Emc1	UTSW	4	139,098,320 (GRCm39)	missense	probably damaging	1.00
R0023:Emc1	UTSW	4	139,098,320 (GRCm39)	missense	probably damaging	1.00
R0051:Emc1	UTSW	4	139,102,474 (GRCm39)	missense	possibly damaging	0.81
R0094:Emc1	UTSW	4	139,087,796 (GRCm39)	missense	probably damaging	0.99
R0613:Emc1	UTSW	4	139,102,383 (GRCm39)	splice site	probably benign
R1464:Emc1	UTSW	4	139,098,248 (GRCm39)	missense	probably damaging	0.97
R1464:Emc1	UTSW	4	139,098,248 (GRCm39)	missense	probably damaging	0.97
R1512:Emc1	UTSW	4	139,087,495 (GRCm39)	splice site	probably null
R1702:Emc1	UTSW	4	139,102,512 (GRCm39)	missense	probably damaging	1.00
R1839:Emc1	UTSW	4	139,087,796 (GRCm39)	missense	probably damaging	0.98
R1850:Emc1	UTSW	4	139,086,684 (GRCm39)	splice site	probably benign
R2024:Emc1	UTSW	4	139,088,257 (GRCm39)	missense	possibly damaging	0.95
R2196:Emc1	UTSW	4	139,093,841 (GRCm39)	missense	probably benign	0.08
R2912:Emc1	UTSW	4	139,092,571 (GRCm39)	missense	possibly damaging	0.51
R3696:Emc1	UTSW	4	139,092,697 (GRCm39)	missense	possibly damaging	0.46
R3697:Emc1	UTSW	4	139,092,697 (GRCm39)	missense	possibly damaging	0.46
R3698:Emc1	UTSW	4	139,092,697 (GRCm39)	missense	possibly damaging	0.46
R3803:Emc1	UTSW	4	139,094,474 (GRCm39)	missense	possibly damaging	0.91
R3923:Emc1	UTSW	4	139,090,496 (GRCm39)	nonsense	probably null
R4738:Emc1	UTSW	4	139,089,513 (GRCm39)	missense	possibly damaging	0.52
R4914:Emc1	UTSW	4	139,102,476 (GRCm39)	nonsense	probably null
R5033:Emc1	UTSW	4	139,099,007 (GRCm39)	missense	probably damaging	1.00
R5322:Emc1	UTSW	4	139,081,557 (GRCm39)	missense	probably damaging	1.00
R5375:Emc1	UTSW	4	139,093,802 (GRCm39)	missense	probably damaging	0.96
R5483:Emc1	UTSW	4	139,102,687 (GRCm39)	missense	probably damaging	1.00
R5587:Emc1	UTSW	4	139,089,459 (GRCm39)	missense	probably damaging	0.98
R5687:Emc1	UTSW	4	139,102,691 (GRCm39)	missense	probably damaging	1.00
R5938:Emc1	UTSW	4	139,084,931 (GRCm39)	missense	probably benign
R6056:Emc1	UTSW	4	139,081,533 (GRCm39)	missense	possibly damaging	0.51
R6170:Emc1	UTSW	4	139,093,689 (GRCm39)	missense	probably benign	0.01
R6174:Emc1	UTSW	4	139,093,842 (GRCm39)	missense	probably benign	0.01
R6208:Emc1	UTSW	4	139,081,582 (GRCm39)	missense	probably damaging	0.99
R6340:Emc1	UTSW	4	139,092,874 (GRCm39)	missense	probably damaging	1.00
R6371:Emc1	UTSW	4	139,098,976 (GRCm39)	nonsense	probably null
R6889:Emc1	UTSW	4	139,092,661 (GRCm39)	missense	probably damaging	0.97
R7592:Emc1	UTSW	4	139,087,877 (GRCm39)	missense	probably benign	0.00
R7699:Emc1	UTSW	4	139,082,181 (GRCm39)	missense	probably benign
R7715:Emc1	UTSW	4	139,098,934 (GRCm39)	missense	probably damaging	1.00
R7984:Emc1	UTSW	4	139,102,760 (GRCm39)	missense	probably damaging	1.00
R8112:Emc1	UTSW	4	139,094,498 (GRCm39)	missense	probably benign	0.00
R8325:Emc1	UTSW	4	139,092,521 (GRCm39)	missense	possibly damaging	0.94
R8387:Emc1	UTSW	4	139,088,600 (GRCm39)	missense	probably benign
R8751:Emc1	UTSW	4	139,097,279 (GRCm39)	missense	possibly damaging	0.58
R9032:Emc1	UTSW	4	139,094,474 (GRCm39)	missense	possibly damaging	0.91
R9085:Emc1	UTSW	4	139,094,474 (GRCm39)	missense	possibly damaging	0.91
R9474:Emc1	UTSW	4	139,093,705 (GRCm39)	missense	probably damaging	0.98
R9482:Emc1	UTSW	4	139,088,201 (GRCm39)	missense	probably damaging	0.96
R9610:Emc1	UTSW	4	139,091,035 (GRCm39)	missense	probably benign	0.38
R9611:Emc1	UTSW	4	139,091,035 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- ATTCCTGACTGAATCTGAGGTGC -3'
(R):5'- GTGTTCCCGAAGCACTTCTC -3'

Sequencing Primer
(F):5'- TGGCTGCTCACTGGCTGTC -3'
(R):5'- TTCTCCATGAAGGTGCACC -3'

Posted On

2014-06-23